Canonical Allele Identifier: CA769468071
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs910949968
gnomAD v4: 2-47782938-G-T
MyVariant Identifiers: chr2:g.48010077G>T (hg19) chr2:g.47782938G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782938G>T , CM000664.2:g.47782938G>T GRCh38
NC_000002.11:g.48010077G>T , CM000664.1:g.48010077G>T GRCh37
NC_000002.10:g.47863581G>T NCBI36
NG_007111.1:g.4792G>T , LRG_219:g.4792G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7989G>T ENSP00000498629.1:n.-37-7989G>T
ENST00000606499.1:c.-37-7989G>T ENSP00000475605.1:n.-37-7989G>T
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